ClinVar Miner

List of variants in gene GJB3 studied for autosomal recessive nonsyndromic hearing loss 1A

Included ClinVar conditions (9):

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; X-linked mixed hearing loss with perilymphatic gusher; Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_024009.3(GJB3):c.579C>T (p.Gly193=)	rs61744512	0.00526
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	rs117385606	0.00039
NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	rs145751680	0.00013
NM_024009.3(GJB3):c.499G>A (p.Val167Met)	rs376748531	0.00004
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)	rs138304650	0.00002
NM_024009.3(GJB3):c.342del (p.Lys115fs)	rs748575478
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	rs1557659237

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